Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AL117258.1 gene AL117258.1 Expert Review Green;Literature;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 12, autosomal, OMIM:619702 34903892;39513328 False 3 100;0;0 4.10 False - ENSG00000283654 HGNC:53647 ARL2BP gene ARL2BP Expert Review Green;Literature;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without situs inversus, OMIM:615434;retinitis pigmentosa with or without situs inversus, MONDO:0014186 23849777;27790702;36507858;38649918;31425546 False 3 100;0;0 4.10 False ENSG00000102931 ENSG00000102931 HGNC:17146 ARMC4 gene ARMC4 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, OMIM:615451 23849778;24203976 False 3 100;0;0 4.10 False ENSG00000169126 ENSG00000169126 HGNC:25583 C11orf70 gene C11orf70 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 38, OMIM:618063 29727692;29727693 False 3 100;0;0 4.10 False ENSG00000137691 ENSG00000137691 HGNC:28188 C1orf127 gene C1orf127 Expert Review Green;Literature;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 14, autosomal, OMIM:621080;heterotaxy, visceral, 14, autosomal, MONDO:0976135 39753129 False 3 100;0;0 4.10 False ENSG00000175262 ENSG00000175262 HGNC:26730 C21orf59 gene C21orf59 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26, 615500 False 3 100;0;0 4.10 False ENSG00000159079 ENSG00000159079 HGNC:1301 CCDC103 gene CCDC103 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, 614679 22581229;28790179 False 3 100;0;0 4.10 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, 615067 23261302;23261303 False 3 100;0;0 4.10 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30, 616037 25192045;25224326 False 3 100;0;0 4.10 False ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC39 gene CCDC39 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, 613807 21131972;23255504 False 3 100;0;0 4.10 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, 613808 23255504;21131974 False 3 100;0;0 4.10 False ENSG00000141519 ENSG00000141519 HGNC:26090 CFAP45 gene CFAP45 Expert Review Green;Literature;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Situs inversus, MONDO:0010029;male infertility due to sperm motility disorder, MONDO:0018395 33139725 False 3 100;0;0 4.10 False ENSG00000213085 ENSG00000213085 HGNC:17229 CFAP52 gene CFAP52 Expert Review Green;Literature;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal visceral heterotaxy, MONDO:0018677 25469542;33139725 False 3 100;0;0 4.10 False ENSG00000166596 ENSG00000166596 HGNC:16053 CFAP53 gene CFAP53 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 6, autosomal recessive, 614779 26531781;22577226;25504577;28621423 False 3 100;0;0 4.10 False ENSG00000172361 ENSG00000172361 HGNC:26530 DAW1 gene DAW1 Expert Review Green;Literature;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 52, OMIM:620570 36074124;28991257 False 3 100;0;0 4.10 False ENSG00000123977 ENSG00000123977 HGNC:26383 DNAAF1 gene DNAAF1 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, 613193 19944405;19944400;18385425 False 3 100;0;0 4.10 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF3 gene DNAAF3 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, 606763 22387996 False 3 100;0;0 4.10 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, 615482 23872636 False 3 100;0;0 4.10 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18, 614874 23040496;20350728;29363216 False 3 100;0;0 4.10 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 12142464;22184204;22102620 False 3 100;0;0 4.10 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 23261302;11788826;11062149 False 3 100;0;0 4.10 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 Expert Review;Expert Review Green Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, 40, 618300 30471717;30471718 False 3 100;0;0 4.10 False ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 10577904;11231901 False 3 100;0;0 4.10 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 23261302;18950741 False 3 100;0;0 4.10 False ENSG00000171595 ENSG00000171595 HGNC:18744 FOXJ1 gene FOXJ1 Expert list;Expert Review Green Laterality disorders and isomerism Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hydrocephalus;chronic destructive airway disease;randomization of left/right body asymmetry 31630787;9739041;15504371 False 3 100;0;0 4.10 False ENSG00000129654 ENSG00000129654 HGNC:3816 GDF1 gene GDF1 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 6, OMIM:613854;Right atrial isomerism (Ivemark), OMIM:208530 20413652;28991257 False 3 100;0;0 4.10 False ENSG00000130283 ENSG00000130283 HGNC:4214 LRRC56 gene LRRC56 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 39, OMIM:618254;Ciliary dyskinesia, primary, 39, MONDO:0032637;Mucociliary Clearance and Laterality Defect 30388400 False 3 100;0;0 4.10 False ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, 614935 23891469;23122589 False 3 100;0;0 4.10 False ENSG00000129295 ENSG00000129295 HGNC:16725 MMP21 gene MMP21 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 7, autosomal, 616749 26437028;26429889 False 3 100;0;0 4.10 False ENSG00000154485 ENSG00000154485 HGNC:14357 PIH1D3 gene PIH1D3 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliary dyskinesia, primary, 36, X-linked, 300991 24421334;28041644 False 3 100;0;0 4.10 False ENSG00000080572 ENSG00000080572 HGNC:28570 PKD1L1 gene PKD1L1 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 8, autosomal, 617205 31026592;27616478;20080492;21307093;27272319 False 3 67;33;0 4.10 False ENSG00000158683 ENSG00000158683 HGNC:18053 SPAG1 gene SPAG1 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28, 615505 24055112 False 3 100;0;0 4.10 False ENSG00000104450 ENSG00000104450 HGNC:11212 TTC25 gene TTC25 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 35, OMIM:617092 27486780;33715250;33746037;34215651 False 3 67;33;0 4.10 False ENSG00000204815 ENSG00000204815 HGNC:25280 ZIC3 gene ZIC3 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotaxy, visceral, 1, X-linked, 306955;Congenital heart defects, nonsyndromic, 1, X-linked 9354794 False 3 100;0;0 4.10 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYND10 gene ZMYND10 Expert Review Green;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22, 615444 False 3 100;0;0 4.10 False ENSG00000004838 ENSG00000004838 HGNC:19412 ACTC1 gene ACTC1 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory False 2 0;50;50 4.10 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTG2 gene ACTG2 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory False 2 0;50;50 4.10 False ENSG00000163017 ENSG00000163017 HGNC:145 CCDC32 gene CCDC32 Expert Review Amber;Literature Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal 32307552 False 2 0;100;0 4.10 False ENSG00000128891 ENSG00000128891 HGNC:28295 CCDC65 gene CCDC65 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, OMIM:615504 23991085;24094744 False 2 50;50;0 4.10 False ENSG00000139537 ENSG00000139537 HGNC:29937 CFC1 gene CFC1 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 2, autosomal, OMIM:605376 11062482;25423076;31633655;18162845 False 2 60;40;0 4.10 False ENSG00000136698 ENSG00000136698 HGNC:18292 CRELD1 gene CRELD1 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 12632326 False 2 0;100;0 4.10 False ENSG00000163703 ENSG00000163703 HGNC:14630 DNAAF2 gene DNAAF2 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10, OMIM:612518 19052621;31107948;32638265 False 2 50;50;0 4.10 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAH1 gene DNAH1 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory False 2 0;100;0 4.10 False ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH6 gene DNAH6 Expert list;Expert Review Amber Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Heterotaxy;male infertility 26918822 False 2 0;100;0 4.10 False ENSG00000115423 ENSG00000115423 HGNC:2951 DNAH8 gene DNAH8 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory False 2 0;100;0 4.10 False ENSG00000124721 ENSG00000124721 HGNC:2952 DNAL1 gene DNAL1 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, 614017 21496787 False 2 50;50;0 4.10 False ENSG00000119661 ENSG00000119661 HGNC:23247 FANCB gene FANCB Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory False 2 0;50;50 4.10 False ENSG00000181544 ENSG00000181544 HGNC:3583 LZTFL1 gene LZTFL1 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory False 2 0;100;0 4.10 False ENSG00000163818 ENSG00000163818 HGNC:6741 MNS1 gene MNS1 Expert Review Amber;Literature Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM: 618948;situs inversus, MONDO:0010029 22396656;30148830;31534215;38920647 False 2 100;0;0 4.10 False ENSG00000138587 ENSG00000138587 HGNC:29636 NKX2-5 gene NKX2-5 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown visceral heterotaxy, MONDO:0018677 25742962;26805889;12414819;25118008 False 2 0;67;33 4.10 False ENSG00000183072 ENSG00000183072 HGNC:2488 NPHP4 gene NPHP4 Expert Review Amber;NHS GMS Laterality disorders and isomerism Respiratory False 2 0;100;0 4.10 False ENSG00000131697 ENSG00000131697 HGNC:19104 ACVR2B gene ACVR2B Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 9916847 False 1 50;0;50 4.10 False ENSG00000114739 ENSG00000114739 HGNC:174 BRWD1 gene BRWD1 Expert Review Red;Literature Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, asthenoteratozoospermia 33389130 False 1 100;0;0 4.10 False ENSG00000185658 ENSG00000185658 HGNC:12760 CCNO gene CCNO Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory False 1 0;0;100 4.10 False ENSG00000152669 ENSG00000152669 HGNC:18576 DAND5 gene DAND5 Literature Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Heterotaxy syndrome 34215651 False 1 0;0;0 4.10 False ENSG00000179284 ENSG00000179284 HGNC:26780 DNAJB13 gene DNAJB13 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory False 1 0;0;100 4.10 False ENSG00000187726 ENSG00000187726 HGNC:30718 DRC1 gene DRC1 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory False 1 0;0;100 4.10 False ENSG00000157856 ENSG00000157856 HGNC:24245 GAS8 gene GAS8 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory False 1 0;0;100 4.10 False ENSG00000141013 ENSG00000141013 HGNC:4166 HYDIN gene HYDIN Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory False 1 0;0;100 4.10 False ENSG00000157423 ENSG00000157423 HGNC:19368 LETM1 gene LETM1 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 1 0;0;100 4.10 False ENSG00000168924 ENSG00000168924 HGNC:6556 MYH6 gene MYH6 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown visceral heterotaxy, MONDO:0018677 20656787;29969989;15735645 False 1 0;50;50 4.10 False ENSG00000197616 ENSG00000197616 HGNC:7576 NME8 gene NME8 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory BIALLELIC, autosomal or pseudoautosomal 17360648 False 1 50;0;50 4.10 False ENSG00000086288 ENSG00000086288 HGNC:16473 NODAL gene NODAL Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy, visceral, 5, 270100 19064609;9354794 False 1 50;0;50 4.10 False ENSG00000156574 ENSG00000156574 HGNC:7865 NSD2 gene NSD2 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory Rauch-Steindl syndrome, OMIM:619695;Rauch-Steindl syndrome, MONDO:0859219 False 1 0;0;100 4.10 False ENSG00000109685 ENSG00000109685 HGNC:12766 RSPH1 gene RSPH1 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory False 1 0;0;100 4.10 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory False 1 0;0;100 4.10 False ENSG00000130363 ENSG00000130363 HGNC:21054 RSPH4A gene RSPH4A Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory False 1 0;0;100 4.10 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Red;NHS GMS Laterality disorders and isomerism Respiratory False 1 0;0;100 4.10 False ENSG00000172426 ENSG00000172426 HGNC:21057